Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14815 | 44668;44669;44670 | chr2:178625378;178625377;178625376 | chr2:179490105;179490104;179490103 |
| N2AB | 13174 | 39745;39746;39747 | chr2:178625378;178625377;178625376 | chr2:179490105;179490104;179490103 |
| N2A | 12247 | 36964;36965;36966 | chr2:178625378;178625377;178625376 | chr2:179490105;179490104;179490103 |
| N2B | 5750 | 17473;17474;17475 | chr2:178625378;178625377;178625376 | chr2:179490105;179490104;179490103 |
| Novex-1 | 5875 | 17848;17849;17850 | chr2:178625378;178625377;178625376 | chr2:179490105;179490104;179490103 |
| Novex-2 | 5942 | 18049;18050;18051 | chr2:178625378;178625377;178625376 | chr2:179490105;179490104;179490103 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1157011423  |
-1.925 | 1.0 | D | 0.7 | 0.394 | 0.421427970867 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| G/E | rs1157011423 |
-1.925 | 1.0 | D | 0.7 | 0.394 | 0.421427970867 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| G/E | rs1157011423 |
-1.925 | 1.0 | D | 0.7 | 0.394 | 0.421427970867 | gnomAD-4.0.0 | 8.85963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.11372E-05 | 0 | 1.63527E-05 |
| G/R | rs371177020 |
-0.833 | 1.0 | D | 0.764 | 0.434 | 0.591730238936 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs371177020 |
-0.833 | 1.0 | D | 0.764 | 0.434 | 0.591730238936 | gnomAD-4.0.0 | 6.58874E-06 | None | None | None | None | N | None | 2.41686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3955 | ambiguous | 0.4015 | ambiguous | -0.565 | Destabilizing | 1.0 | D | 0.539 | neutral | D | 0.583867458 | None | None | N |
| G/C | 0.5506 | ambiguous | 0.5712 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/D | 0.3419 | ambiguous | 0.3926 | ambiguous | -1.321 | Destabilizing | 0.921 | D | 0.503 | neutral | None | None | None | None | N |
| G/E | 0.4322 | ambiguous | 0.4735 | ambiguous | -1.481 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.611587551 | None | None | N |
| G/F | 0.8808 | likely_pathogenic | 0.8863 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.6702 | likely_pathogenic | 0.6942 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/I | 0.7919 | likely_pathogenic | 0.8186 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/K | 0.6176 | likely_pathogenic | 0.6638 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/L | 0.8126 | likely_pathogenic | 0.8355 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/M | 0.8148 | likely_pathogenic | 0.8391 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/N | 0.4328 | ambiguous | 0.4568 | ambiguous | -0.729 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/P | 0.9725 | likely_pathogenic | 0.9652 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/Q | 0.5742 | likely_pathogenic | 0.6013 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/R | 0.5059 | ambiguous | 0.539 | ambiguous | -0.65 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.602911038 | None | None | N |
| G/S | 0.2461 | likely_benign | 0.2553 | benign | -0.798 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| G/T | 0.5675 | likely_pathogenic | 0.5868 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/V | 0.6471 | likely_pathogenic | 0.6782 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.694940935 | None | None | N |
| G/W | 0.6945 | likely_pathogenic | 0.7005 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/Y | 0.7069 | likely_pathogenic | 0.7305 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.